A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465215



Internal ID15178594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:151065784..151128000hg38UCSC Ensembl
Innerchr7:150762871..150825087hg19UCSC Ensembl
Innerchr7:150393804..150456020hg18UCSC Ensembl
Innerchr7:150200519..150262735hg17UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3862217
hg1962217
hg1862217
hg1762217
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541057
Samples1780862416_A
Known GenesAGAP3, FASTK, SLC4A2, TMUB1
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nsv465215
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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